Congenital stationary night blindness (CSNB) has been connected to the leopard complex spotting phenotype (LP) in various horse breeds. CSNB associated with LP is thought to be caused by a 1378 bp insertion in TRPM1, with homozygotes being nightblind and having few to no spots of pigment in their white patterned area. This study aimed to assess the prevalence of CSNB alleles in tarant-colored horses in Poland through a three-primer system for an allele-specific Polymerase Chain Reaction (PCR). The TRPM1 gene insertion was genotyped in 221 horses belonging to Małopolska, Felin and Shetland Ponies. The chi-square (χ²) test indicates, that χ2 <5.991 suggesting that the population is in Hardy-Weinberg equilibrium. Of the horses carrying the LP allele, 7 % of Małopolska horses, 4,8 % of Felin ponies and 6.25 % of the Shetland ponies were homozygous for the TRMP1 insertion, indicating low-light vision issues, crucial for horses working in dim conditions. This study highlights the utility of genetic testing for accurate phenotype evaluation, and clinical and breeding management.
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http://dx.doi.org/10.1016/j.jevs.2025.105405 | DOI Listing |
J Equine Vet Sci
February 2025
Veterinary Genetics Laboratory, Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA, USA; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA, USA.
Congenital stationary night blindness (CSNB) has been connected to the leopard complex spotting phenotype (LP) in various horse breeds. CSNB associated with LP is thought to be caused by a 1378 bp insertion in TRPM1, with homozygotes being nightblind and having few to no spots of pigment in their white patterned area. This study aimed to assess the prevalence of CSNB alleles in tarant-colored horses in Poland through a three-primer system for an allele-specific Polymerase Chain Reaction (PCR).
View Article and Find Full Text PDFJ Clin Med
February 2025
Second Chair, Department of Ophthalmology, Pomeranian Medical University, 70-111 Szczecin, Poland.
To present the current state of knowledge and our diagnosed patients with congenital stationary night blindness. Data from the PubMed database on CSNB and the presentation of patients with complete and incomplete forms of this condition. Patients underwent routine ophthalmologic examination, optical coherence tomography, and full-field elecroretinogram (ERG-ISCEV), ON-OFF ERG.
View Article and Find Full Text PDFDiagnostics (Basel)
January 2025
Faculty of Medicine, Transilvania University of Brasov, 56 Nicolae Bălcescu Street, 500019 Brasov, Romania.
Childhood glaucoma encompasses a group of rare but severe ocular disorders characterized by increased intraocular pressure (IOP), posing significant risks to vision and quality of life. Primary congenital glaucoma has a prevalence of one in 10,000-68,000 people in Western countries. More worryingly, it is responsible for 5-18% of all childhood blindness cases.
View Article and Find Full Text PDFEur J Ophthalmol
February 2025
Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Introduction: Torpedo maculopathy (TM) is a rare, typically benign and congenital anomaly of the retinal pigment epithelium (RPE) characterized by a torpedo-shaped lesion in the macula. DeSanto-Shinawi syndrome (DESS) is an equally rare genetic disorder caused by mutations in the WAC gene, presenting with intellectual disability, dysmorphic features, and growth retardation.
Case Description: This report illustrates the case of monolateral TM in a patient with DESS.
Sci Rep
February 2025
Department of Clinical Aerospace Medicine, School of Aerospace Medicine, Air Force Medical University, Xi'an, 710032, People's Republic of China.
To elucidate the contributions of M-cone to the negative off-response of rat Electroretinogram (ERG) using specific drugs and spontaneous mutation rat models. The ON/OFF responses of ERG were evoked by long duration flash (200 ms) pre or post the application of 2-amino-4-phosphonobutyric acid (APB), cis-piperidine-2,3-dicarboxylic acid (PDA) or BaCl to the Sprague-Dawley (SD) rats. Furthermore, the ON/OFF responses of other two types of mutation rats, the middle-wavelength opsin cone dysfunction (MCD) rats and congenital stationary night blindness (CSNB) rats, were recorded.
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